Genetics of congenital anomalies of the hand

Abstract

Congenital anomalies of the hand are malformations occurring during the development of the human limb, and present as isolated disorders or as a part of a syndrome. During the last years, molecular analysis techniques have offered increasing knowledge about the molecular basis of hand malformations. Disturbances in the signaling pathways during the development of the upper limb result in malformations of the upper extremity. At present, several genes have been identified as responsible for hand anomalies and other have been recognized as suspect genes related to them. Different and new high throughput methods have been introduced for the identification of the gene mutations. In the current editorial, we summarize concisely the current molecular status of isolated hand genetic disorders and the recent progress in molecular genetics, including the genes related to the disorder. This progress improves the knowledge of these disorders and has implications on genetic counselling and prenatal diagnosis.

Keywords: Hand; Gene; Mutation; Molecular; Diagnosis; Disorders

Core Tip: The genetic basis of hand disorders is elucidated by the expansion of knowledge and introduction of molecular analysis techniques which contribute to the identification of new genes responsible for them. New genes and mutations are being isolated and correlated with the disorder based on the advances in sequencing technology, such as next generation sequencing and genetic consultation, and future therapeutic developments are enhanced. There appears to be a gap in the literature concerning the knowledge about the genetic basis of all hand disorders. The current molecular status of them is discussed and a summary of different genes, already identified or suspected to be related with them, is presented.